Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Expanded Carrier Screening in Reproductive Medicine—Points to Consider

Janice G. Edwards, Gerald L. Feldman, Anthony R. Gregg et al. · Obstetrics and Gynecology · 2015 · 368 citations

Medicine, Gynecology, Obstetrics +15

Genetic Test Availability And Spending: Where Are We Now? Where Are We Going?

Kathryn A. Phillips, Patricia A. Deverka, Gillian W. Hooker et al. · Health Affairs · 2018 · 229 citations

Life Sciences, Genetics, Molecular Genetics +11

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan, Wendy K. Chung, Hutton M. Kearney et al. · Genetics in Medicine · 2019 · 222 citations · Full text

Life Sciences, Biostatistics, Genetics +13

Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk

Jennifer L. Caswell‐Jin, Tanya Gupta, Evan Hall et al. · Genetics in Medicine · 2017 · 217 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16